ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.1964A>G (p.Gln655Arg) (rs9397509)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000118457 SCV000152863 benign not specified 2017-07-07 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000118457 SCV000226972 benign not specified 2014-12-24 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000361444 SCV000461559 likely benign Spinocerebellar ataxia, autosomal recessive 8 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000263930 SCV000461560 likely benign Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000445089 SCV000511396 likely benign not provided 2016-10-13 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000118457 SCV000523364 benign not specified 2016-10-10 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics Inc RCV000445089 SCV000615598 benign not provided 2019-02-19 criteria provided, single submitter clinical testing
Invitae RCV001083042 SCV000649096 benign Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000445089 SCV001154967 likely benign not provided 2018-06-01 criteria provided, single submitter clinical testing

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